UNDI conference underscores importance of funding research into rare illnesses

The annual gathering of Undiagnosed Diseases Network International touted the success of exchanges between countries and stressed the importance of funding for little-studied diseases.

Participants at the 13th conference of the Undiagnosed Diseases Network International pose for a group photo at Seoul National University Hospital in Jongno District, central Seoul, on Sept. 5. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

Experts who gathered in Seoul for an international conference on undiagnosed diseases earlier this month emphasized the importance of international cooperation and funding for continued research in comments to the JoongAng Ilbo, an affiliate of the Korea JoongAng Daily.

The annual gathering of the Undiagnosed Diseases Network International (UNDI), which took place in Korea for the first time this year, brought together 282 experts from 30 countries for discussions on how to treat rare ailments.

The conference also marked the 10th anniversary of UNDI’s establishment in 2014.

From left: Domenica Taruscio, director of the National Centre for Rare Diseases at the Italian National Institute of Health; Chae Jong-hee, director of the Seoul National University Hospital (SNUH) Genomic Medicine Institute; William A. Gahl, clinical cirector of the U.S. National Human Genome Research Institute; Helene Cederroth, founder of the Wilhelm Foundation; Kim Young-tae, director of SNUH; and Choi Eun-ha, director of the SNUH Child Cancer and Rare Disease Project, pose for a group photo at the 13th Undiagnosed Diseases Network International conference in Seoul on Sept. 5. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

Medical researchers and experts who attended this year’s meeting emphasized the importance of cross-border cooperation in finding answers to rare diseases with causes that are poorly understood.

“I was able to send clinical samples to a colleague in a different country after attending a UNDI conference for the first time two years ago,” said Prof. Salman Kirmaniof from Aga Khan University in Karachi, Pakistan, who noted that if it weren’t for UNDI, he would not have been able to obtain costly genetic tests for his patients.

Prof. Salman Kirmani of the Aga Khan University in Karachi, Pakistan, at the 13th Undiagnosed Diseases Network International conference in Seoul on Sept. 5 [NAM SOO-HYOUN]

Others, such as Prof. Monkol Lek of Yale University, noted that funding for rare diseases is harder to come by compared to more common ailments.

“Unlike cancer or heart disease, rare and undiagnosed diseases affect one in a million people, making it hard to convince donors to give money to research,” Lek said. “Although the Chan Zuckerberg Initiative provides funding for research into rare diseases, it’s still difficult to obtain government support.”

Lek noted that the total of 300 billion won ($225.4 million) given by the family of late Samsung Chairman Lee Kun-hee to fund research into rare diseases in Korea “far exceeds the usual size of donations in this field.”

“The work of uncovering the genes and mutations that trigger rare diseases might seem boring, but it is incredibly important. Because governments typically shy away from investing in such research, private donations [such as the Lee family’s] can be of incredible help,” Lek said.

Prof. Monkol Lek of Yale University at the 13th Undiagnosed Diseases Network International conference in Seoul on Sept. 5 [NAM SOO-HYOUN]

This year’s UNDI conference was co-hosted by the Wilhelm Foundation of Sweden and the Child Cancer and Rare Disease Project at Seoul National University Hospital (SNUH), which was established with the support from the Lee family.

The SNUH project is also endowed with funds to invite experts from across Asia, which remains relatively behind in research into rare and undiagnosed diseases compared to Western nations.

Experts from other Asian countries also cited the lack of funding for research into undiagnosed diseases as an obstacle to understanding and treating such ailments.

Prof. Can Thi Bich Ngoc of the Vietnam National Hospital of Pediatrics at the 13th Undiagnosed Diseases Network International conference in Seoul on Sept. 5 [NAM SOO-HYOUN]

Prof. Can ThiBich Ngoc, who leads genetic research at the Vietnam National Hospital of Pediatrics, told the JoongAng Ilbo that Vietnam “has foundations for research into cancer and heart disease, but none yet for undiagnosed diseases.”

She added the absence of support for dedicated research “impedes both diagnosis and treatment,” but that she strives to attract donations from foreign companies.

Prof. Chae Jong-hee, director of the SNUH Genomic Medicine Institute, told the JoongAng Ilbo that she expects research cooperation with other Asian countries “will also aid Korean patients” and expressed hope that such collaboration “will also improve accurate diagnosis rates and prospects for finding new and effective treatments.”

She further added that this year’s UNDI conference “laid the foundation for future cooperation between experts from around the world” and “showcased Korea’s importance as a global leader in research regarding undiagnosed diseases.”

Prof. Chae Jong-hee, director of the Seoul National University Hospital Genomic Medicine Institute, delivers her opening remarks at the 13th conference of the Undiagnosed Diseases Network International in Seoul on Sept. 5. [NAM SOO-HYOUN]

BY NAM SOO-HYOUN, MICHAEL LEE [lee.junhyuk@joongang.co.kr]